A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11088357



Internal ID3310679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101693323..101700611hg38UCSC Ensembl
Innerchr3:101693323..101700611hg38UCSC Ensembl
Outerchr3:101692823..101701111hg38UCSC Ensembl
chr3:101412167..101419455hg19UCSC Ensembl
Innerchr3:101412167..101419455hg19UCSC Ensembl
Outerchr3:101411667..101419955hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg387289
hg197289
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597193
Supporting Variants
SamplesHG02947
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11088357
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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